Women with endometriosis have a small but significant increased risk for having babies with birth defects, such as those affecting the heart, gastric, genital, or musculoskeletal system, compared with women without the condition.
As reported in the Canadian Medical Association Journal, 6.3% of infants born to women with endometriosis included in the study had a congenital anomaly, compared with 5.4% of infants born to those without the condition.
Notably, only around 11% of the increased risk could be attributed to fertility treatment meaning that the condition itself is likely responsible for the small increase in risk. It suggests that endometriosis itself, likely through inflammatory pathways, oxidative stress, or epigenetic mechanisms, may directly disrupt fetal organogenesis.
Endometriosis is a chronic condition where tissue similar to the uterine lining grows outside the uterus, causing severe pelvic pain, painful periods, and often infertility. It affects an estimated 6.5 million women in the U.S., though many go undiagnosed for years.
“Endometriosis can trigger inflammation and oxidative stress, which have been linked to abnormal organogenesis in offspring. This disruption in organogenesis can lead to functional or structural anomalies that occur in utero, which typically develop in the first trimester of gestation,” write lead author Bailey Milne, Queen’s University, Kingston, Ontario, and colleagues.
“Some studies have reported an increased risk of genital defects among infants born to women with endometriosis; however, data are lacking on the risk of other congenital anomalies.”
To investigate this further, Milne and team conducted a large population-based cohort study using Ontario health administrative data, examining over 1.46 million births between 2006 and 2021. The aim was to quantify the risk of congenital anomalies in infants born to women with a pre-existing diagnosis of endometriosis.
Overall, 33,619 (2.3%) women included in the study had endometriosis. Women with endometriosis had a 16% increase in risk for having a baby with a congenital birth defect compared with women without the condition and 89% of this risk could be attributed to the presence of endometriosis and not possible confounding factors like fertility treatment. The most common associated defects were cleft palate, male genitourinary malformations, and cardiovascular abnormalities.
“Although this study contributes to accumulating data on a potential increased risk of birth defects for infants born to patients with endometriosis, the specific mechanistic pathways remain largely unknown,” write Milne and coauthors.
“A theorized mechanism by which endometriosis might increase risk of any congenital anomaly is through inflammatory pathways. The existing literature suggests a need for more comprehensive models that integrate genetic, epigenetic, and environmental factors to better understand this.”
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